Varaico: Literature-Extracted Genetic Variants

TERF2

189 papers

RefSeq Summary

This gene encodes a telomere specific protein, TERF2, which is a component of the telomere nucleoprotein complex. This protein is present at telomeres in metaphase of the cell cycle, is a second negat...

Pfam Domains

TRFaa 94–293UCSCTelomere repeat binding factor (TRF)

TERF2_RBMaa 318–358UCSCTelomeric repeat-binding factor 2 Rap1-binding motif

Myb_DNA-bindingaa 489–537UCSCMyb-like DNA-binding domain

Gene Aliases

HGNC Name

telomeric repeat binding factor 2

HGNC Previous Symbol

TRBF2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_005652.5

p.R316Splc

c.947+27G>A

Surrounding Variants

1 paper

NM_005652.5

p.G305A

c.914G>C

1 paper

NM_005652.5

p.P304L

c.911C>T

1 paper

NM_005652.5

p.E298G

c.893A>G

1 paper

NM_005652.5

p.P321L

c.962C>T

1 paper

NM_005652.5

p.T323P

c.967A>C

1 paper

NM_005652.5

p.I325V

c.973A>G

1 paper

NM_005652.5

p.Q341R

c.1022A>G

1 paper

NM_005652.5

p.Q341P

c.1022A>C

1 paper

NM_005652.5

p.S343fs

c.1027_1028fs

2 papers

NM_005652.5

p.A346G

c.1037C>G

1 paper

NM_005652.5

p.Q352insFs

c.1054dupC

1 paper

NM_005652.5

p.L357insFs

c.1071dupT